Tbio ALX4 Homeobox protein aristaless-like 4

Protein Summary

Description

Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]

Uniprot Accession IDs

• Q9H161
• Q96JN7
• Q9H198
• Q9HAY9

Gene Name

• ALX4

Ensembl ID

• ENST00000329255
• ENSP00000332744
• ENSG00000052850

Symbol

• KIAA1788
• CRS5
• FND2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.74
microRNA	0.66
phenotype	0.64
trait	0.61
protein domain	0.58

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 97.95   (req: < 5)

Gene RIFs: 25   (req: <= 3)

Antibodies: 265   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 97.95   (req: >= 5)

Gene RIFs: 25   (req: > 3)

Antibodies: 265   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 18

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0